Disorders Of Calcium Metabolism Research Articles

Determining biological variation of serum parathyroid hormone in healthy adults.

IntroductionMeasurement of parathyroid hormone (PTH) is essential in the investigation and management of calcium metabolism disorders. To assess the significance of any assay result when clinical decision making biological variation (BV) of the measurand must be taken into consideration. The aim of the present study is determining the BV parameters for serum PTH.Materials and methodsBlood samples were taken at weekly intervals from 20 healthy subjects for ten weeks in this prospective BV study. Serum “intact PTH” concentrations were measured with electrochemiluminescence method. Biological variation parameters were estimated using the approach proposed by Fraser.ResultsThe values of within-subject biological variation (CVI), between-subject biological variation (CVG), analytical variation (CVA), reference change value (RCV) and individuality index (II) for serum PTH were 21.1%, 24.9%, 3.8%, 59.4% and 0.8%, respectively. Within-subject biological variation and CVG were also determined according to gender separately; 18.5% and 24.0%; 26.2% and 18.6% for male and female, respectively. Calculated desirable precision and bias goals were < 10.6% and < 6.3%, respectively.ConclusionThis study may contribute to BV data on serum PTH as it includes a sufficient number of volunteers from both genders over an acceptable period of time. We do not recommend the usage of population-based reference intervals for serum PTH concentrations. Reference change value may be helpful for the evaluation of serial serum PTH results. Nonetheless, evaluation of data according to gender is necessary when setting analytical performance specifications.

Update - Calcium Metabolism

A finely balanced control system keeps the extracellular calcium concentration within narrow limits. Disorders of calcium metabolism are often based on altered parathormone levels. Symptoms are not always clear, sometimes they are even missing: the more it is important to know possible associated diseases. The author presents basics, current diagnostics and concrete therapy options. Central hormone for the regulation of the calcium balance is the parathyroid hormone. With decreasing calcium, PTH leads to an increase in extracellular free calcium concentration in three ways. The classic symptoms of pHPT (polyuria, polydipsia, "stone, leg, and stomach pain") are rare now, as the condition is diagnosed much earlier. Treatment of choice in all symptomatic patients with pHPT is surgery. FHH and pHPT are both characterized by hypercalcaemia and increased parathyroid hormone. The differential diagnosis of urinary calcium excretion, which is usually lower in FHH but normal or elevated in pHPT, is crucial. In primary hypoparathyroidism, parathyroid failure interferes with calcium homeostasis at a central location. Consequences are hypocalcaemia, hyperphosphatemia and lack of active vitamin D. Due to increased urinary calcium excretion, patients with ADH are at high risk for kidney stones, nephrocalcinosis and the development of renal insufficiency. Recently, rhPTH 1-84 has been available for the treatment of hypoparathyroidism. However, long-term data is still lacking to provide a safe indication, considering potential effects and side effects.

Particulars of the perioperative management of patients with end stage renal disease during hip and knee replacement arthroplasty

The world prevalence of chronic kidney disease (CKD) stages 1 to 5 ranges from 11.7 to 15.1%. Incidence of fractures in patients with CKD stage 5 is 5-fold higher than that in the general population, which is related to mineral metabolism disorders, secondary hyperparathyroidism, and osteoporosis. By damaging multiple organs and systems, CKD triggers a whole pathological cascade. There are hematopoietic abnormalities, cell lineages, direct toxic effect on blood cell elements, with simultaneously increased risk of bleeding and a high and extremely high risk of thrombi formation and thromboembolic complications. Calcium and phosphorus metabolism disorders lead to calcification and mineralization of vasculature, myocardium and heart valves; progressive renal dysfunction affects the course of heart and vessel diseases, aggravating their clinical manifestations. Cardiovascular disorders become the main cause of death of such patients, and the development of pulmonary hypertension is associated with increased morbidity and mortality. At the same time, protein and energy deficiencies do occur, with disturbance of the acid-base balance, water and electrolyte balance; uremic toxins exert unhealthy effects on the gastrointestinal tract. Various extra-renal pathologies, specific pharmacokinetics, regimen and frequency of renal replacement therapy needed to maintain an adequate volume status make it necessary to thoroughly prepare the patients for surgery and define special requirement to perioperative management in arthroplasty. Currently, there are no guidelines on the perioperative management of this patient category. In this review article we consider specifics and particulars of preoperative, intraoperative and postoperative management of the end stage CKD patients during knee and hip replacement arthroplasties.

α-Heteroatom-substituted gem-Bisphosphonates: Advances in the Synthesis and Prospects for Biomedical Application

Functionalized gem-bisphosphonic acid derivatives being pyrophosphate isosteres are of great synthetic and biological interest since they are currently the most important class of drugs developed for the treatment of diseases associated with the disorder of calcium metabolism, including osteoporosis, Paget’s disease, and hypercalcemia. In this article, we will try to give an in-depth overview of the methods for obtaining &amp;#945;- heteroatom-substituted methylenebisphosphonates and acquaint the reader with the synthetic strategies that are used to develop biologically important compounds of this type.

Inhibition of acetylation of histones 3 and 4 attenuates aortic valve calcification

Aortic valve calcification develops in patients with chronic kidney disease who have calcium and phosphate metabolic disorders and poor prognoses. There is no effective treatment except valve replacement. However, metabolic disorders put patients at high risk for surgery. Increased acetylation of histones 3 and 4 is present in interstitial cells from human calcific aortic valves, but whether it is involved in aortic valve calcification has not been studied. In this study, we found that treating cultured porcine aortic valve interstitial cells with a high-calcium/high-phosphate medium induced calcium deposition, apoptosis, and expression of osteogenic marker genes, producing a phenotype resembling valve calcification in vivo. These phenotypic changes were attenuated by the histone acetyltransferase inhibitor C646. C646 treatment increased the levels of class I histone deacetylase members and decreased the acetylation of histones 3 and 4 induced by the high-calcium/high-phosphate treatment. Conversely, the histone deacetylase inhibitor suberoylanilide hydroxamic acid promoted valve interstitial cell calcification. In a mouse model of aortic valve calcification induced by adenine and vitamin D treatment, the levels of acetylated histones 3 and 4 were increased in the calcified aortic valves. Treatment of the models with C646 attenuated aortic valve calcification by restoring the levels of acetylated histones 3 and 4. These observations suggest that increased acetylation of histones 3 and 4 is part of the pathogenesis of aortic valve calcification associated with calcium and phosphate metabolic disorders. Targeting acetylated histones 3 and 4 may be a potential therapy for inoperable aortic valve calcification in chronic kidney disease patients.

Influencing factors of protein energy wasting in maintenance hemodialysis patients

Objective: To analyze the influencing factors of protein energy wasting (PEW) in maintenance hemodialysis (MHD) patients. Methods: A multicenter cross-sectional study was conducted in eleven hemodialysis centers of Guizhou province between June and August 2018. Clinical data, physical parameters, body composition data and laboratory values of MHD patients were collected. Analysis of variance was used to assess the impact of the indicators on the prevalence of PEW. Factor analysis was carried out after further classifing the factors into several common factors, and logistic regression was used to analyze the impact of common factors on PEW. Results: The results of univariate analysis showed that somatic cell mass, lean weight, fat content, body mass index (BMI), grip strength, leg circumference, hip circumference, waist circumference, midpoint circumference of upper arm, triceps skin fold thickness, hemoglobin, albumin, prealbumin, serum calcium, phosphorus, serum magnesium, creatinine, parathyroid hormone were the influential factors of PEW (all P<0.05). Factor analysis indicated that the above indicators can be classified into five common factors. Logistic regression model showed that with the increase of the prevalence of PEW, the scores of common factors decreased, the absolute value of regression coefficient beta in sequence, was common factor 2 (β=-2.258, P<0.001), common factor 4 (β=-1.589, P<0.001), common factor 1 (β=-1.144, P=0.001) and common factor 3 (β=-0.740, P=0.016). Conclusion: The reduction of fat content, anemia, hypoproteinemia, disorder of calcium and phosphorus metabolism were important factors influencing PEW.

OR02-3 Endocrinological Crosstalk between Calcium Metabolism and Steroidogenesis in Primary Aldosteronism

Introduction Primary aldosteronism (PA) accounts for 5-10% of all of the patients with hypertension and companies higher incidence of cardiovascular events. Calcium metabolic disorders including secondary hyperparathyroidism and osteoporosis were detected more frequently in PA patients than EH patients. Recently, it has been also reported that there was some interactive regulations between parathyroid gland and adrenal zona glomerulosa. However, its detailed mechanism has virtually remained unknown. Therefore, in order to clarify the association between Ca metabolic disorders and steroidogenesis as well as its clinical significance in PA patients, we analyzed expression profiles of Ca-related receptors in aldosterone-producing adenoma (APA), and compared the findings with clinicopathological parameters. PTH-induced steroidogenesis was also examined by in vitro study using H295R cell lines. Materials and methods Thirty formalin-fixed and paraffin-embeded APA and seventeen normal adrenal glands (NA) were examined for immunohistochemistry(IHC). 17 APA and 19 CPA cases were examined for mRNA expression levels of steroidogenic enzymes and Ca-related receptors by qRT-PCR. In vitro study was performed to analyze the responsiveness of steroidogenic enzymes by PTH treatment in H295R. Results Based on the results of IHC analysis, PTH1R and VDR were predominantly immunolocolized in the ZG among the normal adrenal cortex. VDR was positively correlated with CYP21A in normal ZG and CYP11B2 in APA. PTH1R was positively correlated with both CYP11B2 and CYP21A in APA. CaSR was inversely correlated with that of CYP11B2 in normal ZG. Both PTH1R and VDR mRNA levels were significantly higher in APA than in CPA. Also, their mRNA levels were positively correlated with CYP17A in APA. CaSR mRNA was detected in both APA and NA. For the clinical significance, VDR immunoreactivity was positively correlated with TRACP-5b. CaSR immunoreactivity was positively correlated with Bone Mineral Density (BMD). PTH1R immunoreactivity was inversely correlated with serum Ca level, and PTH1R mRNA level was positively correlated with urinary Ca. VDR mRNA level was inversely correlated with serum phosphate(P) and upregulated in KCNJ5 mutated APAs than wild type. CYP11A1 and CYP17A mRNA expression levels were significantly increased in cell line by PTH treatment. Discussion Results of our present study did demonstrate that PTH and Vitamin D could act on their receptors in APA, and could possibly activate aberrant pathways of “neoplastic” steroidogenesis including both aldosterone and cortisol, especially in stimulating CYP17A1 and CYP11A1. In addition, extracellular Ca level was closely associated with steroidogenesis in both normal ZG and PA. Finally, adrenal expression profiles of Ca-related receptors (VDR, CaSR and PTH1R) could be the predictive markers of Ca and bone metabolic disorders in PA patients.

Human medicines European public assessment report (EPAR): Ibandronic acid Accord, ibandronic acid, Wounds and Injuries,Breast Diseases,Neoplastic Processes,Calcium Metabolism Disorders,Neoplasms by Site,Water-Electrolyte Imbalance, Date of authorisation: 18/11/2012, Revision: 9, Status: Authorised

Human medicines European public assessment report (EPAR): Ibandronic acid Accord, ibandronic acid, Wounds and Injuries,Breast Diseases,Neoplastic Processes,Calcium Metabolism Disorders,Neoplasms by Site,Water-Electrolyte Imbalance, Date of authorisation: 18/11/2012, Revision: 9, Status: Authorised

Human medicines European public assessment report (EPAR): Ibandronic acid Accord, ibandronic acid, Wounds and Injuries,Breast Diseases,Neoplastic Processes,Calcium Metabolism Disorders,Neoplasms by Site,Water-Electrolyte Imbalance, Date of authorisation: 18/11/2012, Revision: 9, Status: Authorised

Human medicines European public assessment report (EPAR): Ibandronic acid Accord, ibandronic acid, Wounds and Injuries,Breast Diseases,Neoplastic Processes,Calcium Metabolism Disorders,Neoplasms by Site,Water-Electrolyte Imbalance, Date of authorisation: 18/11/2012, Revision: 9, Status: Authorised

Pattern of Paediatric Endocrine Disorders According to ICD-10 Classification in a Tertiary Centre in Southern Nigeria

Aim: To describe the spectrum of various endocrine disorders seen in children and adolescents in Port Harcourt over the period 2013-2017 using modified European Society of Paediatric endocrinology ICD -10 classification.&#x0D; Study Design: Descriptive, Cross sectional study.&#x0D; Place and Duration: Paediatric endocrinology Unit, Department of Paediatrics, University of Port Harcourt Teaching Hospital. Study was done with data from January 2013 to August 2017.&#x0D; Methods: A retrospective review of 178 patients with various endocrine diseases was reported. Data on biodata, clinical presentations and investigations with diagnosis were retrieved from the clinic and ward records and endocrine unit registers.&#x0D; Results: A total of 178 patients were seen with various endocrine disorders over the study period accounting for 4.5% of Paediatric specialist clinic consultations. There were 89(50.0%) females and 80(44.9%) males. Nine (5.1%) had genital ambiguity. The ages of patients ranged from 12days to 17years with a mean age of 6.9 ± 5.1years. The commonest endocrine disorders were pubertal disorders, diabetes mellitus, thyroid disorders and calcium phosphate metabolism and bone disorders in 34(17%), 27(14%) 23(12%), 22(11%) and 22(11%) respectively. Twenty two (11%) of the patients had obesity and 10(5%) had syndromes with endocrine features. Other disorders seen were sex development and gender disorders, testicular/male reproductive tract disorders, growth disorders (short stature) ovarian/female reproductive tract disorders, pituitary/ hypothalamic disorders and adrenal disorders in 17(9%), 17(9%) 10(5%),7(4%), 5(2.5%) and 3(1.5%) respectively. Type 1 DM remained the commonest type of DM. Most of the patients were of the middle social class (social class III). Challenges to management included high cost of investigations and drugs, high rate of loss to follow up.&#x0D; Conclusion: Pubertal disorders, type 1 Diabetes mellitus, thyroid disorders, calcium and phosphate metabolism and bone disorders and obesity were the commonest cases in our review. Most investigations were available in private laboratories with high cost of investigation leading to loss to follow up and continuation of care.

Tenosynovitis With Psammomatous Calcifications: A Distinctive Trauma-Associated Subtype of Idiopathic Calcifying Tenosynovitis With a Predilection for the Distal extremities of Middle-Aged Women-A Report of 23 Cases.

The term "idiopathic calcifying tenosynovitis" (ICT) refers to a clinically and radiologically defined syndrome of pain and tendinous calcifications, most often involving the shoulder joint. A distinctive subset of ICT cases, termed "tenosynovitis with psammomatous calcifications" (TPC), occurs in the distal extremities and shows characteristic morphology, in particular psammomatous calcifications. As only 14 cases have been reported to date, TPC remains poorly recognized by both pathologists and clinicians. Twenty-three well-characterized cases of TPC along with all available radiologic and clinical information, including follow-up, were collected. Cases occurred in 21 females and 1 male (1 patient of unknown sex), aged 16 to 75 years (mean: 41), and almost exclusively involved the fingers and toes, except for one case in the elbow and one in the knee joint. The lesions ranged from 2 to 30 mm in size (mean: 10 mm). Pain was the most common presenting symptom (12/16 patients). A history of trauma or repetitive activity was present in 6 of 15 patients. None of the individuals was known to have disorders in calcium or phosphate metabolism. Radiographic studies showed a nonspecific, calcified mass. Typical morphologic features of TPC were invariably present, with degenerating tendinous tissue containing psammomatous calcifications, surrounded by a variably cellular, CD68/CD163/CD4-positive histiocyte-rich granulomatous host reaction. HUMARA assay in one case showed a polyclonal pattern. Clinical follow-up (19 patients; mean: 5.2 y; range: 1 to 14 y) showed no local recurrences. In this, the largest study of TPC to date, we confirm striking predilection of this distinctive pseudoneoplasm for the fingers and toes of young to middle-aged women. TPC should be rigorously distinguished from other forms of ICT, which typically involve large, proximal joints, and show simply dystrophic calcification involving tendinous tissues, and from tumoral calcinosis, which also involves large joints and often is associated with calcium and/or phosphate abnormalities. TPC appears to be related to trauma and/or repetitive activity and is cured with simple excision.

Calcium-Phosphate Metabolism Disorders in Patients with Renal Failure Clinical Significance, Diagnosis and Treatment

Abstract Chronic kidney diseases (CKD) are commonly associated with calcium and phosphorus metabolism disorders. The general term of “renal osteodystrophy” (ROD) encompasses a complex spectrum of abnormalities in bone and mineral metabolism in CKD. This is one of the most serious and debilitating complications of CKD. It is related to disproportionately high direct and indirect costs of healthcare, thus posing a major burden on society. The development of ROD begins too early in the course of CKD. Some mechanisms involved in the pathogenesis of ROD are reduced calciferol production, calcium deficiency and hyperphosphatemia. Clinically, ROD occurs with varied manifestations – osteomalacia, osteoporosis, adynamic bone disease. The diagnosis and the treatment are a challenge for the physician and effort should be made to prolong the duration and quality of life of the affected patients.

Sarcoidosis and calcium homeostasis disturbances-Do we know where we stand?

The majority of cases involving hypercalcemia in the setting of sarcoidosis are explained by the overproduction of calcitriol by activated macrophages. Vitamin D takes part in the regulation of granuloma formation. However, using vitamin D metabolites to assess the activity of the disease is still problematic, and its usefulness is disputable. In some cases, though, a calcium metabolism disorder could be a valuable tool (i.e. as a marker of extrathoracic sarcoidosis). Although sarcoidosis does not cause a decrease in bone mineral density, increased incidence of vertebral deformities is noted. Despite increasing knowledge about calcium homeostasis disorders in patients with sarcoidosis, there is still a need for clear guidelines regarding calcium and vitamin D supplementation in these patients.

Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study

Objective Molecular diagnosis is a useful diagnostic tool in calcium metabolism disorders. The calcium-sensing receptor (CaSR) is known to play a central role in the regulation of extracellular calcium homeostasis. We performed clinical, biochemical and genetic characterization of sequence anomalies in this receptor in a cohort of 130 individuals from 82 families with suspected alterations in the CASR gene, one of the largest series described. Methods The CASR gene was screened for mutations by polymerase chain reaction followed by direct Sanger sequencing. Results Presumed CaSR-inactivating mutations were found in 65 patients from 26 families. These patients had hypercalcemia (median: 11.3 mg/dL) but normal or abnormally high parathyroid hormone (PTH) levels (median: 52 pg/mL). On the other hand, presumed CaSR-activating mutations were detected in 17 patients from eight families. These patients had a median serum calcium level of 7.4 mg/dL and hypoparathyroidism (median: PTH 13 pg/mL). Further, common polymorphisms previously associated with high blood ionized calcium levels were found in 27 patients (median calcium: 10.6 mg/dL; median PTH: 65 pg/mL) with no other alterations in CASR. Overall, we found 30 different mutations, of which, 14 have not been previously reported (p.Ala26Ser, p.Cys60Arg, p.Lys119Ile, p.Leu123Met, p.Glu133Val, p.Gly222Glu, p.Phe351Ile, p.Cys542Tyr, p.Cys546Gly, p.Cys677Tyr, p.Ile816Val, p.Ala887Asp, p.Glu934*, p.Pro935_Gln945dup). Conclusions Patients with CASR mutations may not fit the classic clinical pictures of hypercalcemia with hypocalciuria or hypocalcemia with hypercalciuria. Molecular studies are important for confirming the diagnosis and distinguishing it from other entities. Our genetic analysis confirmed CaSR disorders in 82 patients in the study cohort.

On the Urinary Excretion of a Substance as Predicted from the Substance-to-Creatinine Ratio

Equations predicting the urinary excretion of a substance of interest have been developed from a deterministic model linking substance-to-creatinine ratio with expected creatinine output for sex and age. Developed predictive equations show ≥ 80% accuracy and ≥ 90% agreement with traditional, established methods recurring to 24 hours urine collections. Clinical usefulness of the predictive equations has been validated in the study of calcium metabolism disorders. Predictive equations can be expanded to accommodate the specific gravity and osmolarity of urine. Predictive equations discussed in this essay have opened new windows in the assessment of kidney function and metabolic disorders. It is expected these predictive equations to secure a higher compliance of kidney assessment tests in children and adolescents.

Effect of Ronghuang Granule on serum FGF23, FGFRs and Klotho in non-dialysis patients with CKD-MBD and kidney deficiency and damp-heat syndrome

To observe the effect of Ronghuang granule on serum fibroblast growth factor 23 (FGF23), fibroblast growth factor receptor (FGFRs) and Klotho protein levels in non-dialysis patients with chronic kidney disease-mineral and bone disorder (CKD-MBD) and kidney deficiency and damp heat syndrome. Seventy non-dialysis CKD-MBD patients with kidney deficiency and dampness-heat syndrome were randomized into control group (n=35) and treatment group (n=35). All the patients were given routine treatment combined with traditional Chinese medicine retention enema, and the patients in the treatment group received additional Ronghuang granule treatment (3 times a day). After the 12-week treatments, the patients were examined for changes of TCM syndromes. Serum levels of Ca, P, parathyroid hormone (iPTH), FGF23, FGFRs and Klotho proteins were detected before and after treatment. These parameters were also examined in 20 healthy volunteers. Sixty-five patients completed the study, including 33 in the control group and 32 in the treatment group. The patients in the treatment group showed significantly better treatment responses than those in the control group (P &lt; 0.05 or 0.01). At 4, 8, and 12 weeks of treatment, the patients in the treatment group had significantly lowered scores of TCM syndromes compared with the score before treatment (P &lt; 0.05 or 0.01), while in the control group, significant reduction of the scores occurred only at 12 weeks (P &lt; 0.05); at each of the time points, the treatment group had significantly greater reductions in the score than the control group (P &lt; 0.01). Significant improvements in serum Ca, P and iPTH levels were observed at 4, 8, and 12 weeks in the treatment group (P &lt; 0.05) but only at 12 weeks in the control group (P &lt; 0.05). The patients in the control and treatment groups all showed elevated serum levels of FGF23, FGFRs and Klotho protein compared with the normal subjects (P &lt; 0.01); FGF23, FGFRs and Klotho levels were significantly reduced in the treatment group (P &lt; 0.05) but remained unchanged in the control group (P&gt;0.05), showing significant differences between the two groups. Ronghuang granule improves the clinical symptoms of non-dialysis CKD-MBD patients with kidney deficiency and dampness heat syndrome by reducing serum levels of FGF23, FGFRs and Klotho, improving calcium and phosphorus metabolism disorder, and inhibiting secondary hyperparathyroidism.

Understanding nationwide readmissions after thyroid surgery

The 30-day readmission rate is increasingly utilized as a metric of quality that impacts reimbursement. To date, there are no nationally representative data on readmission rates after thyroid surgery. We aimed to determine national readmission rates after inpatient thyroidectomy operations and whether select clinical factors were associated with increased odds of postthyroidectomy readmission. Using the 2014 Nationwide Readmissions Database, we identified patients undergoing inpatient thyroid surgery as defined by the International Classification of Diseases, Ninth Revision, procedure codes for thyroid lobectomy, partial thyroidectomy, complete thyroidectomy, and substernal thyroidectomy. Descriptive statistics were used to report readmission rates, most common diagnosis and causes of readmission, and timing of presentation after discharge. Multivariable logistic regression models controlling for potential confounders were used to determine whether select factors were associated with 30-day readmission. A total of 22,654 patients underwent inpatient thyroid surgery during the study period, 990 of whom (4.4%) were readmitted within 30 days. Among these, the most common diagnoses during readmission were disorders of mineral metabolism and hypocalcemia, accounting for 36.0% and 26.6% of readmissions, respectively. This held true regardless of the apparent indication for thyroid surgery (goiter, cancer, or thyroid function disorder) or timing of readmission after discharge. Calcium-related abnormalities were the top diagnoses at readmissions (22.1%). Most readmissions (54.6%) occurred within 7 days of discharge, with 24.6% within the first 2 days Factors associated with an increased odds of readmission included having Medicare (adjusted odds ratio [AOR] 1.47 and 95% confidence interval [CI] 1.03-2.11) or Medicaid insurance (AOR 1.44 [CI 1.04-1.99]), being discharged to inpatient post acute care (AOR 2.31 [CI 1.48-3.62]) or to home health care (AOR 1.78 [CI 1.21-2.63]), having an Elixhauser comorbidity score ≥ 4 (AOR 2.04 [CI 1.27-3.26]), and a duration of stay ≥2 days after the thyroid surgery (AOR 2.7 [CI 1.9-3.82]). The only complication during index admission associated with increased odds of readmission was hypocalcemia (AOR 1.5 [CI 1.1-2.06]. Indications for thyroid surgery were not associated with increased odds of readmission. Readmissions after thyroid surgery are relatively low and occur early after surgery. The most common diagnoses identified on readmission were calcium and mineral metabolism disorders, which also were the most common cause of readmission. Socioeconomic factors, comorbidities, and complications during the index admissions were found to be associated with nonelective, postthyroidectomy readmissions. Recognition of these risk factors may guide the development of interventions and protocols to decrease readmissions.

Advances in the treatment of hypoparathyroidism with PTH 1-34.

Hypoparathyroidism is a rare disorder of calcium metabolism which is treated with calcium and vitamin D analogs. Although conventional therapy effectively raises serum calcium, it bypasses the potent calcium reabsorption effects of PTH on the kidney which leads to hypercalciuria and an increased risk of nephrocalcinosis and renal insufficiency. Twenty-five years ago, we launched the first systematic investigation into synthetic human PTH 1-34 replacement therapy in both adults and children. These studies led to our current understanding of the complex nature of PTH 1-34 therapy and to the challenges we still face in our pursuit of a safe and effective physiologic replacement therapy for hypoparathyroidism. The normalization and minimal fluctuation of serum and urine calcium levels were the primary management goals. As the frequency of PTH 1-34 injections increased, the total daily dose required to normalize calcium homeostasis decreased and episodes of hypercalcemia and hypercalciuria diminished, producing a more physiologic biochemical profile. Twice-daily injections achieved simultaneous normalization of serum and urine calcium levels in many patients but the persistent elevation of bone markers and the difficulty in reducing urine calcium to normal levels in the more severe cases, suggested an alternative to PTH 1-34 injections was needed. The studies with PTH 1-34 delivered by insulin pump represent an important advance in the management of hypoparathyroidism. PTH 1-34 delivered by insulin pump normalized serum and urine calcium and markers of bone turnover. Additionally, pump delivery of PTH 1-34 produced stable magnesium values within the normal range and reduced magnesium excretion. Currently, PTH 1-34 delivery by pump is the only alternative to PTH injections that has been tested in both adults and children and proven to achieve a physiologic biochemical profile.

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations

Prenatal diagnosis of hyperechogenic kidneys is associated with a wide range of etiologies and prognoses. The recent advances in fetal ultrasound associated with the development of next-generation sequencing for molecular analysis have enlarged the spectrum of etiologies, making antenatal diagnosis a very challenging discipline. Of the various known causes of hyperechogenic fetal kidneys, calcium and phosphate metabolism disorders represent a rare cause. An accurate diagnosis is crucial for providing appropriate genetic counseling and medical follow-up after birth. We report on three cases of fetal hyperechogenic kidneys corresponding to postnatal diagnosis of nephrocalcinosis. In all cases, antenatal ultrasound showed hyperechogenic kidneys of normal to large size from 22 gestational weeks, with a normal amount of amniotic fluid. Postnatal ultrasound follow-up showed nephrocalcinosis associated with hypercalcemia, hypercalciuria, elevated 1,25(OH)2-vitamin D, and suppressed parathyroid hormone levels. Molecular genetic analysis by next-generation sequencing performed after birth in the three newborns revealed biallelic pathogenic variants in the SLC34A1 gene, encoding the sodium/phosphate cotransporter type 2 (Npt2a), confirming the diagnosis of infantile hypercalcemia. Nephrocalcinosis due to infantile hypercalcemia can be a cause of fetal hyperechogenic kidneys, which suggests early antenatal anomaly of calcium and phosphate metabolism. This entity should be considered in differential diagnosis. Postnatal follow-up of infants with hyperechogenic kidneys should include evaluation of calcium and phosphate metabolism.

Clinical case of pseudohypoparathyroidism in a child

We have described a clinical case of treatment of a child with pseudohypoparathyroidism — pathology characterized by calcium and phosphate metabolic disorder, specific phenotype, as well as often accompanied by delay in physical and intellectual development. Presented is the case record of a child who consulted an endocrinologist and had been previously diagnosed with congenital hypothyroidism. We have described clinical aspects of disease in the patient, phasing of their emergence, retrospective dynamics of lab values against the background of previous treatment, results of genetic research, which enabled us to confirm the diagnosis of pseudohypoparathyroidism. Emphasis is placed on importance of differential diagnostics of calcium and phosphate metabolic disorders in children, particularly in those with signs of hormone resistance.